Canonical Allele Identifier: CA626486011

Gene: COL1A1

Linked Data

• dbSNP Id: rs1318708182
• gnomAD v2: 17-48274445-C-A
• gnomAD v4: 17-50197084-C-A
• MyVariant Identifiers: chr17:g.48274445C>A (hg19) ; chr17:g.50197084C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197084C>A , CM000679.2:g.50197084C>A	GRCh38
NC_000017.10:g.48274445C>A , CM000679.1:g.48274445C>A	GRCh37
NC_000017.9:g.45629444C>A	NCBI36
NG_007400.1:g.9556G>T , LRG_1:g.9556G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.751-21G>T MANE Select	ENSP00000225964.6:n.751-21G>T
ENST00000225964.9:c.751-21G>T	ENSP00000225964.5:n.751-21G>T
ENST00000495677.1:n.478-21G>T
NM_000088.3:c.751-21G>T , LRG_1t1:c.751-21G>T	NP_000079.2:n.751-21G>T
XM_005257058.3:c.751-21G>T	XP_005257115.2:n.751-21G>T
XM_005257059.3:c.751-21G>T	XP_005257116.2:n.751-21G>T
XM_011524341.1:c.751-21G>T	XP_011522643.1:n.751-21G>T
XM_005257058.4:c.751-21G>T	XP_005257115.2:n.751-21G>T
XM_005257059.4:c.751-21G>T	XP_005257116.2:n.751-21G>T
NM_000088.4:c.751-21G>T MANE Select	NP_000079.2:n.751-21G>T